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Physical Manifestations Associated with Neurofibromatosis (NF-1)

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dc.contributor.author Rivera, Luis
dc.contributor.author Terfera, David R.
dc.contributor.author Perrault, Terence
dc.contributor.author Kelliher, Kevin R.
dc.date.accessioned 2016-05-19T16:12:56Z
dc.date.available 2016-05-19T16:12:56Z
dc.date.issued 2016-04-01
dc.identifier.uri https://scholarworks.bridgeport.edu/xmlui/handle/123456789/1613
dc.description.abstract Neurofibromatosis (NF-1), know as Von Recklinghausen's disease, is one of the most common genetic disorders, affecting about 1 in 3,500 people. Inherited in an autosomal dominant fashion, this disorder results in lesions of the nervous, visual and integumentary system that are highly variable in their level of severity. NF-1 is caused by a mutation of a gene located on chromosome 17 which encodes the protein neurofibromin, a negative regulator of cell signaling pathways for the control of cellular division. Thusly, the NF gene is referred to as a tumor suppressing gene and mutations result in mostly benign tumorous growths and more rarely malignancies. NF-1 phenotypically presents itself with a variety of characteristic manifestations. While these manifestations are highly disfiguring they are generally painless and very rarely become life threatening. In addition to the neurofibromas of the central and peripheral nervous system, NF-1 may affect any part of the body resulting in a variety of complications. In this case study, we present the results of a cadaveric dissection of a donor with NF-1 to catalog the most common manifestations of this disease. en_US
dc.language.iso en_US en_US
dc.subject NF-1 mutation en_US
dc.subject Neurofibromatosis en_US
dc.title Physical Manifestations Associated with Neurofibromatosis (NF-1) en_US
dc.type Presentation en_US
dc.institute.department School of Arts and Sciences en_US
dc.institute.name University of Bridgeport en_US
dc.event.location Bridgeport, CT en_US
dc.event.name Faculty Research Day en_US


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